All terms in DOID

Label Id Description
temtamy preaxial brachydactyly syndrome DOID_0050814 [A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.]
Vibrio cholerae NCBITaxon_666
spondyloepiphyseal dysplasia with congenital joint dislocations DOID_0050813 [A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.]
glioblastoma mesenchymal subtype DOID_0050805 [A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.]
glioblastoma proneural subtype DOID_0050804 [A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.]
Kahrizi syndrome DOID_0050807 [A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.]
glioblastoma neural subtype DOID_0050806 [A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.]
mucopolysaccharidosis IX DOID_0050809 [A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.]
androgenic alopecia DOID_0050801 [An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.]
cerebral creatine deficiency syndrome 1 DOID_0050800 [A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.]
glioblastoma classical subtype DOID_0050803 [A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.]
Ehlers-Danlos syndrome spondylodysplastic type 2 DOID_0050802 [An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.]
femoral vein UBERON_0001361
parietal peritoneum UBERON_0001366
head UBERON_0000033
Bartonella clarridgeiae NCBITaxon_56426
sacro-iliac joint UBERON_0001365
lymph node UBERON_0000029
Vibrionales NCBITaxon_135623
hindlimb muscle UBERON_0003663